%0 Journal Article
%T Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome
%A Catherine Sarret
%A Christine Francannet
%A El¨¦onore Eymard-Pierre
%A Evan Paules
%A Imen Dorboz
%A Natalia I. Krupenko
%A Odile Boespflug-Tanguy
%A Peter Pediaditakis
%A Sergey A. Krupenko
%A Susan Sumner
%A Zahra Ashkavand
%J Archive of "NPJ Genomic Medicine".
%D 2019
%R 10.1038/s41525-019-0092-9
%X Particularities of the patient phenotype. Patient at the age of 3 years a, b and 14 years c presented with a facial dysmorphism with epicanthus, hypertelorism, broad nasal root, anteverted nares, long philtrum, thin upper lip. The written consent for publication of these photos was obtained from child¡¯s parents. Cerebral MRI shows diffuse hypomyelination at the age of 2 years with white matter appearing respectively in hypersignal on T2-weighted sequences, in hypersignal on FLAIR sequences and in normosignal on T1-weighted sequences d, g, j. Progressive myelination and dilatation and coalescing of Virchow¨CRobin spaces at the age of 6 e, h, k and 14 years f, i, l. 1H-MRS in the corona radiata for classical SLS patients shows a typical major peak at 1.3£¿ppm and a smaller peak at 0.9£¿ppm (m, arrows). 1H-MRS for our patient reveals a similar pattern with two peaks at 1.3 and 0.9£¿ppm (arrows) at the age of 2 n and 6 years o. However, the peak at 1.3£¿ppm appears smaller than the peak at 0.9£¿ppm in our patient. We observed no decrease in N-acetyl-aspartate (NAA)/creatine (Cr) ratio, or in choline (Cho) peak suggesting normal maintenance of neuronal and myelin content but a small increase of inositol peak that may be due to some astrocytic stress. Family pedigrees p and patient¡¯s genotype r,
%K Diseases
%K Metabolic disorders
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650503/